Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development (Q36098992)

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English	Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development	scientific article

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scholarly article

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Europe PubMed Central

12 August 2017

Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development (English)

1 reference

Europe PubMed Central

12 August 2017

congenital disorder

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1 reference

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inferred from title

Neil W Bulstrode

object named as

Neil W Bulstrode

8

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Kate Northstone

object named as

Kate Northstone

6

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object named as

Eugene Healy

13

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object named as

Ian J Jackson

4

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object named as

Philip Stanier

9

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object named as

Neil J Sebire

11

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5

object named as

Susan M Ring

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Europe PubMed Central

12 August 2017

author name string

Veronica A Kinsler

1

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Europe PubMed Central

12 August 2017

Sayeda Abu-Amero

2

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Europe PubMed Central

12 August 2017

Peter Budd

3

1 reference

Europe PubMed Central

12 August 2017

David J Atherton

7

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Europe PubMed Central

12 August 2017

Raoul C Hennekam

10

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Europe PubMed Central

12 August 2017

Gudrun E Moore

12

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Europe PubMed Central

12 August 2017

language of work or name

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publication date

10 May 2012

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Europe PubMed Central

12 August 2017

Journal of Investigative Dermatology

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Europe PubMed Central

12 August 2017

132

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Europe PubMed Central

12 August 2017

8

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Europe PubMed Central

12 August 2017

2026-2032

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Europe PubMed Central

12 August 2017

https://scigraph.springernature.com/pub.10.1038/jid.2012.95

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Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

2 October 2017

Genome-wide associations studies for melanoma and nevi

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

2 October 2017

Familial clustering of giant congenital melanocytic nevi

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

2 October 2017

The role of surgery in the management of congenital melanocytic naevi in children: a perspective from Great Ormond Street Hospital.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

2 October 2017

Great Ormond Street Hospital for Children Registry for congenital melanocytic naevi: prospective study 1988-2007. Part 1-epidemiology, phenotype and outcomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

2 October 2017

Interaction between p53 codon 72 polymorphism and melanocortin 1 receptor variants on suntan response and cutaneous melanoma risk

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

2 October 2017

Genetic determinants of hair, eye and skin pigmentation in Europeans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

2 October 2017

Melanoma risk in congenital melanocytic naevi: a systematic review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

2 October 2017

Alpha-melanocyte-stimulating hormone suppresses antigen-induced lymphocyte proliferation in humans independently of melanocortin 1 receptor gene status

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

2 October 2017

Melanocortin-1 receptor gene variants affect pain and mu-opioid analgesia in mice and humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

2 October 2017

Interactive effects of MC1R and OCA2 on melanoma risk phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

2 October 2017

MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

2 October 2017

The role of melanocortin-1 receptor polymorphism in skin cancer risk phenotypes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

2 October 2017

Human melanocortin 1 receptor (MC1R) gene variants alter melanoma cell growth and adhesion to extracellular matrix

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

2 October 2017

MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

2 October 2017

ALSPAC--the Avon Longitudinal Study of Parents and Children. I. Study methodology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

2 October 2017

A new human genetic resource: a DNA bank established as part of the Avon longitudinal study of pregnancy and childhood (ALSPAC).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

2 October 2017

Evidence for variable selective pressures at MC1R

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

2 October 2017

Melanocortin 1 receptor variants in an Irish population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

2 October 2017

Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

2 October 2017

GeneCards: integrating information about genes, proteins and diseases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

2 October 2017

Neurocutaneous melanosis: clinical features of large congenital melanocytic nevi in patients with manifest central nervous system melanosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

2 October 2017

Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

2 October 2017

Neurocutaneous melanosis: definition and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

2 October 2017

The cloning of a family of genes that encode the melanocortin receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

2 October 2017

Protection against UVR involves MC1R-mediated non-pigmentary and pigmentary mechanisms in vivo.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

23 September 2018

Great Ormond Street Hospital for Children Registry for Congenital Melanocytic Naevi: prospective study 1988-2007. Part 2--Evaluation of treatments.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

23 September 2018

Spontaneous involution of congenital melanocytic nevi of the scalp.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

23 September 2018

Expression and localization of melanocortin-1 receptor in human adipose tissues of severely obese patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

23 September 2018

p53 codon 72 Pro homozygosity increases the risk of cutaneous melanoma in individuals with dark skin complexion and among noncarriers of melanocortin 1 receptor red hair variants.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

23 September 2018

Children with red hair have more freckles but fewer melanocytic nevi: results from a cohort study of 280 three-year-olds.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

23 September 2018

BRAF mutations are sufficient to promote nevi formation and cooperate with p53 in the genesis of melanoma.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

23 September 2018

Large congenital melanocytic nevi may reflect paradominant inheritance implying allelic loss.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

23 September 2018

Genome-wide search for nevus density shows linkage to two melanoma loci on chromosome 9 and identifies a new QTL on 5q31 in an adult twin cohort

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398254

5 December 2018

Expression of the MC1 receptor gene in normal and malignant human melanocytes. A semiquantitative RT-PCR study

1 reference

https://pubmed.ncbi.nlm.nih.gov/22572819

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The melanocortin-1-receptor gene is the major freckle gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/22572819

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Measuring congenital melanocytic nevi

1 reference

https://pubmed.ncbi.nlm.nih.gov/22572819

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for alpha-melanocyte-stimulating hormone (alpha-MSH) receptors on human malignant melanoma cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/22572819

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The expression of functional MSH receptors on cultured human melanocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/22572819

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunohistochemical detection of the melanocortin 1 receptor in human testis, ovary and placenta using specific monoclonal antibody

1 reference

https://pubmed.ncbi.nlm.nih.gov/22572819

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Melanocortin-1-receptor gene and sun sensitivity in individuals without red hair

1 reference

https://pubmed.ncbi.nlm.nih.gov/22572819

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of function mutations of the human melanocortin 1 receptor are common and are associated with red hair

1 reference

https://pubmed.ncbi.nlm.nih.gov/22572819

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Association of melanoma and neurocutaneous melanocytosis with large congenital melanocytic naevi-results from the NYU-LCMN registry

1 reference

https://pubmed.ncbi.nlm.nih.gov/22572819

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MC1R common variants, CDKN2A and their association with melanoma and breast cancer risk

1 reference

https://pubmed.ncbi.nlm.nih.gov/22572819

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complications of congenital melanocytic naevi in children: analysis of 16 years' experience and clinical practice

1 reference

https://pubmed.ncbi.nlm.nih.gov/22572819

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1038/JID.2012.95

1 reference

Europe PubMed Central

12 August 2017

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24 November 2022

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mapped directly with Wikidata item

1 reference

Europe PubMed Central

12 August 2017

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Europe PubMed Central

12 August 2017

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